keyword
MENU ▼
Read by QxMD icon Read
search

Cfdna

keyword
https://www.readbyqxmd.com/read/29448920/the-t790m-resistance-mutation-in-egfr-is-only-found-in-cfdna-from-erlotinib-treated-nsclc-patients-that-harbored-an-activating-egfr-mutation-before-treatment
#1
Christina Demuth, Anne Tranberg Madsen, Britta Weber, Lin Wu, Peter Meldgaard, Boe Sandahl Sorensen
BACKGROUND: Lung cancer patients with an activating mutation in the EGFR (epidermal growth factor receptor) can develop resistance to erlotinib treatment, which is often mediated by the T790M resistance mutation in EGFR. The difficulties in obtaining biopsies at progression make it challenging to investigate the appearance of the T790M mutation at progression in large patient cohorts. We have used cell free DNA (cfDNA) from patients treated with erlotinib to investigate if the development of a T790M mutation coincides with the presence of an activating EGFR mutation in the pre-treatment blood sample...
February 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29436713/when-ultrasound-anomalies-are-present-an-estimation-of-the-frequency-of-chromosome-abnormalities-not-detected-by-cell-free-dna-aneuploidy-screens
#2
Rebecca M Reimers, Heather Mason-Suares, Sarah E Little, Bryann Bromley, Emily S Reiff, Lori J Dobson, Louise Wilkins-Haug
OBJECTIVES: This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA). METHODS: A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities...
February 13, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29435489/the-use-of-ultrasound-as-a-potential-adjunct-to-cell-free-fetal-dna-screening-for-aneuploidy-at-weill-cornell-medical-college-new-york-usa
#3
Jessica Scholl, Stephen Chasen
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30...
January 2018: Surgery Journal
https://www.readbyqxmd.com/read/29433355/what-would-be-missed-in-the-first-trimester-if-nuchal-translucency-measurement-is-replaced-by-cell-free-dna-foetal-aneuploidy-screening
#4
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29431697/convergent-therapeutic-strategies-to-overcome-the-heterogeneity-of-acquired-resistance-in-brafv600e-colorectal-cancer
#5
Mehlika Hazar-Rethinam, Marianna Kleyman, G Celine Han, David Liu, Leanne G Ahronian, Heather A Shahzade, Lifeng Chen, Aparna R Parikh, Jill N Allen, Jeffrey W Clark, Eunice L Kwak, Jason E Faris, Janet E Murphy, Theodore S Hong, Emily E Van Seventer, Brandon Nadres, Catriona B Hong, Joseph M Gurski, Nicholas A Jessop, Dora Dias-Santagata, A John Iafrate, Eliezer M Van Allen, Ryan B Corcoran
Clonal heterogeneity associated with acquired resistance presents a critical therapeutic challenge. Whole-exome sequencing of paired tumor biopsies and targeted sequencing of cell-free DNA (cfDNA) from BRAFV600E colorectal cancer patients receiving BRAF inhibitor combinations identified 14 distinct alterations in MAPK pathway components driving acquired resistance, with as many as eight alterations in a single patient. We developed a novel pooled clone system to study clonal outgrowth during acquired resistance, in vitro and in vivo...
February 5, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29430506/toward-personalised-liquid-biopsies-for-urothelial-carcinoma-characterisation-of-ddpcr-and-urinary-cfdna-for-the-detection-of-the-tert-228%C3%A2-g-a-t-mutation
#6
Ilaria J Russo, Yongwon Ju, Naheema S Gordon, Maurice P Zeegers, K K Cheng, Nicholas D James, Richard T Bryan, Douglas G Ward
Background: TERT promotor mutations are present in >75% of bladder tumours; these mutations are also detectable in urine. Previous studies have used urinary pellet DNA, and semi-quantitative methods unsuitable for detecting very low mutant allele frequencies. Objective: In this proof-of-principle study we use ddPCR to count the DNA molecules with wt and mutant TERT sequences in urinary cfDNA from patients whose bladder cancers harbour TERT mutations. Methods: Urinary cfDNA prepared from the urine from 104 bladder cancer patients was analysed...
January 20, 2018: Bladder Cancer
https://www.readbyqxmd.com/read/29428284/cell-free-dna-screening-for-single-gene-disorders-and-determination-of-fetal-rhesus-d-genotype
#7
REVIEW
Kristin D Gerson, Barbara M O'Brien
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29428281/cell-free-dna-screening-for-aneuploidy-and-microdeletion-syndromes
#8
REVIEW
Brian L Shaffer, Mary E Norton
Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29423116/a-plasma-telomeric-cell-free-dna-level-in-unaffected-women-with-brca1-or-and-brca2-mutations-a-pilot-study
#9
Shatovisha Dey, Natascia Marino, Kanokwan Bishop, Paige N Dahlgren, Aditi Shendre, Anna Maria Storniolo, Chunyan He, Hiromi Tanaka
Plasma cell-free DNA (cfDNA) is a small DNA fragment circulating in the bloodstream originating from both non-tumor- and tumor-derived cells. A previous study showed that a plasma telomeric cfDNA level decreases in sporadic breast cancer patients compared to controls. Tumor suppressor gene products including BRCA1 and BRCA2 (BRCA1&2) play an important role in telomere maintenance. In this study, we hypothesized that the plasma telomeric cfDNA level is associated with the mutation status of BRCA1&2 genes. To test this hypothesis, we performed plasma telomeric cfDNA quantitative PCR (qPCR)-based assays to compare 28 women carriers of the BRCA1&2 mutation with age-matched controls of 28 healthy women...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29419698/next-generation-sequencing-diagnostics-of-bacteremia-in-sepsis-next-genesis-trial-study-protocol-of-a-prospective-observational-noninterventional-multicenter-clinical-trial
#10
MULTICENTER STUDY
Thorsten Brenner, Sebastian O Decker, Silke Grumaz, Philip Stevens, Thomas Bruckner, Thomas Schmoch, Mathias W Pletz, Hendrik Bracht, Stefan Hofer, Gernot Marx, Markus A Weigand, Kai Sohn
BACKGROUND: Sepsis remains a major challenge, even in modern intensive care medicine. The identification of the causative pathogen is crucial for an early optimization of the antimicrobial treatment regime. In this context, culture-based diagnostic procedures (e.g., blood cultures) represent the standard of care, although they are associated with relevant limitations. Accordingly, culture-independent molecular diagnostic procedures might be of help for the identification of the causative pathogen in infected patients...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29416824/the-dawn-of-the-liquid-biopsy-in-the-fight-against-cancer
#11
REVIEW
Irma G Domínguez-Vigil, Ana K Moreno-Martínez, Julia Y Wang, Michael H A Roehrl, Hugo A Barrera-Saldaña
Cancer is a molecular disease associated with alterations in the genome, which, thanks to the highly improved sensitivity of mutation detection techniques, can be identified in cell-free DNA (cfDNA) circulating in blood, a method also called liquid biopsy. This is a non-invasive alternative to surgical biopsy and has the potential of revealing the molecular signature of tumors to aid in the individualization of treatments. In this review, we focus on cfDNA analysis, its advantages, and clinical applications employing genomic tools (NGS and dPCR) particularly in the field of oncology, and highlight its valuable contributions to early detection, prognosis, and prediction of treatment response...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29410677/development-of-a-method-to-implement-whole-genome-bisulfite-sequencing-of-cfdna-from-cancer-patients-and-a-mouse-tumor-model
#12
Elaine C Maggi, Silvia Gravina, Haiying Cheng, Bilal Piperdi, Ziqiang Yuan, Xiao Dong, Steven K Libutti, Jan Vijg, Cristina Montagna
The goal of this study was to develop a method for whole genome cell-free DNA (cfDNA) methylation analysis in humans and mice with the ultimate goal to facilitate the identification of tumor derived DNA methylation changes in the blood. Plasma or serum from patients with pancreatic neuroendocrine tumors or lung cancer, and plasma from a murine model of pancreatic adenocarcinoma was used to develop a protocol for cfDNA isolation, library preparation and whole-genome bisulfite sequencing of ultra low quantities of cfDNA, including tumor-specific DNA...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29409051/impact-of-genomic-alterations-on-lapatinib-treatment-outcome-and-cell-free-genomic-landscape-during-her2-therapy-in-her2-positive-gastric-cancer-patients
#13
S T Kim, K C Banks, E Pectasides, S Y Kim, K Kim, R B Lanman, A Talasaz, J An, M G Choi, J H Lee, T S Sohn, J M Bae, S Kim, S H Park, J O Park, Y S Park, H Y Lim, N K D Kim, W Park, H Lee, A J Bass, K Kim, W K Kang, J Lee
Background: To identify predictive markers for responders in lapatinib-treated patients and to demonstrate molecular changes during lapatinib treatment via cell-free genomics. Patients and Methods: We prospectively evaluated the efficacy of combining lapatinib with capecitabine and oxaliplatin as first line neoadjuvant therapy in patients with previously untreated, HER2-overexpressing advanced gastric cancer (AGC). A parallel biomarker study was conducted by simultaneously performing immunohistochemistry (IHC) and next-generation sequencing with tumor and blood samples...
February 2, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29405770/liquid-biopsy-and-its-role-in-an-advanced-clinical-trial-for-lung-cancer
#14
Donald J Johann, Mathew Steliga, Ik J Shin, Donghoon Yoon, Konstantinos Arnaoutakis, Laura Hutchins, Meeiyueh Liu, Jason Liem, Karl Walker, Andy Pereira, Mary Yang, Susanne K Jeffus, Erich Peterson, Joshua Xu
Liquid biopsy methodologies, for the purpose of plasma genotyping of cell-free DNA (cfDNA) of solid tumors, are a new class of novel molecular assays. Such assays are rapidly entering the clinical sphere of research-based monitoring in translational oncology, especially for thoracic malignancies. Potential applications for these blood-based cfDNA assays include: (i) initial diagnosis, (ii) response to therapy and follow-up, (iii) tumor evolution, and (iv) minimal residual disease evaluation. Precision medicine will benefit from cutting-edge molecular diagnostics, especially regarding treatment decisions in the adjuvant setting, where avoiding over-treatment and unnecessary toxicity are paramount...
February 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29400102/-in-vivo-analysis-of-circulating-cell-free-dna-release-and-degradation
#15
Barbara Kinga Barták, Zsófia Brigitta Nagy, Sándor Spisák, Zsolt Tulassay, Magdolna Dank, Péter Igaz, Béla Molnár
INTRODUCTION: Cell-free DNA (cfDNA) was first detected in human plasma in the 1940s, but the knowledge on its regulation and rate of release is incomplete. CfDNA can originate from both normal and tumour cells. AIM: Our aims were to investigate the rate of cfDNA's release in SHO mice/HT-29 colorectal adenocarcinoma cell line xenograft model and to define the decay of methylated and non-methylated DNA fragments in C57BL/6 bloodstream. METHOD: SHO mice were xenografted with human HT-29 cells, than blood samples were collected over 2 months...
February 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29399517/neutrophil-extracellular-traps-are-increased-in-cancer-patients-but-does-not-associate-with-venous-thrombosis
#16
Rahmi Oklu, Rahul A Sheth, Keith H K Wong, Amin H Jahromi, Hassan Albadawi
Background: A single center, prospective tissue-based study was conducted to investigate an association between neutrophil extracellular traps (NETs) and venous thromboembolic disease in patients with malignancy. Methods: Plasma was collected from 65 patients in which 27 were cancer patients and 38 were age-matched non-cancer patients. Plasma NETs, circulating free DNA (cfDNA), DNase-1, endonuclease-G, endonuclease activity and thrombin-antithrombin III (TAT) complex levels was quantified...
December 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#17
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening. METHOD: Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29383155/circulating-cell-free-dna-content-as-blood-based-biomarker-in-endometrial-cancer
#18
Lucia Cicchillitti, Giacomo Corrado, Martina De Angeli, Emanuela Mancini, Ermelinda Baiocco, Lodovico Patrizi, Ashanti Zampa, Roberta Merola, Aline Martayan, Laura Conti, Giulia Piaggio, Enrico Vizza
Background: Altered circulating cell-free DNA (cfDNA) levels are related to cancer development and aggressiveness. Up to now, very few studies have been performed for evaluating cfDNA content in endometrial cancer (EC). Methods: First, we measured cfDNA release in blood serum of EC cancer patients collected before surgery and before the beginning of any treatment by SYBR Gold assay and correlated it with tumor aggressiveness. We also assessed the relative mitochondrial cell-free DNA (cfmtDNA) content by qRT-PCR...
December 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29382943/optimized-targeted-sequencing-of-cell-free-plasma-dna-from-bladder-cancer-patients
#19
Emil Christensen, Iver Nordentoft, Søren Vang, Karin Birkenkamp-Demtröder, Jørgen Bjerggaard Jensen, Mads Agerbæk, Jakob Skou Pedersen, Lars Dyrskjøt
Analysis of plasma cell-free DNA (cfDNA) may provide important information in cancer research, though the often small fraction of DNA originating from tumor cells makes the analysis technically challenging. Digital droplet PCR (ddPCR) has been utilized extensively as sufficient technical performance is easily achieved, but analysis is restricted to few mutations. Next generation sequencing (NGS) approaches have been optimized to provide comparable technical performance, especially with the introduction of unique identifiers (UIDs)...
January 30, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29382392/serum-dna-integrity-index-as-a-potential-molecular-biomarker-in-endometrial-cancer
#20
Enrico Vizza, Giacomo Corrado, Martina De Angeli, Mariantonia Carosi, Emanuela Mancini, Ermelinda Baiocco, Benito Chiofalo, Lodovico Patrizi, Ashanti Zampa, Giulia Piaggio, Lucia Cicchillitti
BACKGROUND: Circulating cell-free DNA (cfDNA) and its integrity index may represent a rapid and noninvasive "liquid biopsy" biomarker, which gives important complementary information for diagnosis, prognosis, and treatment stratification in cancer patients. The aim of our study was to evaluate the possible role of cfDNA and its integrity index as a complementary tool for endometrial cancer (EC) management. METHODS: Alu-quantitative real-time PCR (qPCR) analysis wasprformed on 60 serum samples from preoperative EC patients randomly recruited...
January 30, 2018: Journal of Experimental & Clinical Cancer Research: CR
keyword
keyword
4457
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"